In this section the deformities of the hands which are most common in RDEB type Hallopeau-Siemens are described because they present the biggest need for therapeutic intervention. Patients with such severe deformities of the hands are extremely handicapped in their activities of daily life and so are the main people referred to OT. Prophylactic splinting, bandaging or use of compression gloves and exercise should help to delay the development of contractures and deformities.

Pseudosyndactyly starts to develop very gradually from infancy and by the age of 20 years; 98 % of those who have the sub-type Hallopeau-Siemens have this problem (cf. Fine et al. 2005). The cause is a lengthening of the commissure (web space) from proximal to distal, a process called webbing.

Pseudosyndactyly is typified by a fusion of all fingers; isolated movement of the fingers is no longer possible. Sometimes a certain amount of movement of the thumb is retained because it gets used so much, whereas spreading the fingers out (abduction) is completely lost (see Fig. 8.2a).

In comparison, only 3 % of patients with the dominant dystrophic type show these changes by the age of 40 years. Seventeen per cent of patients with JEB-Herlitz are affected by the age of 15 years, and 9 % with JEB-non-Herlitz by the age of 45 years (cf. Fine et al. 2005).

Flexion contractures of the fingers develop along with the webbing (see Fig. 8.2b); this reduces the finger flexion and extension or even makes it impossible.

In congenital syndactyly the adhesions of differently long fingers often limit the growth and may even cause a rotation fault of the bones of the longer finger. Clinical observations indicate that these symptoms are most likely also present in the pseudosyndactyly of people with EB. Postoperatively the scarring or poor healing of the wounds can cause contractures and possibly skeletal changes. Several patterns of contractures develop, but it is difficult to classify them as the different types overlap with each other.

Greider and Flatt (1998) mention the different changes which can be seen with X-rays: Hand and foot deformities with a generalised osteoporosis, wedge-shaped narrowing and hook-shaped changes to the distal phalanges, narrowed and constricted bones, osteolysis of the acra, flexion contractures, metatarsophalangeal (MTP) and metacarpo-phalangeal (MCP) subluxation, disappearance of the first interdigital space, and covering of the contracted fingers with a cocoon or mitten. Apart from this, delays in the skeletal development, bony stiffening, for example in the proximal IP joints, resorption of the heads of the metatarsals and metacarpals, shortened metatarsal bones, carpal and tarsal fusions and destruction as well as cystic changes of radius and ulna have all been observed.

These deformities of the hands, which are usually a progressive development, lead to more and more limitations, less fine motor function, dexterity and less ability to grasp and hold (see Fig. 8.14a,b).

Ludwikowski (2009) describes that it could be possible to use various surgical procedures; the choice and execution lies in the judgement of the individual surgeon. The adduction contracture of the thumb is usually released with deep palmar and dorsal incisions in the first commissure. The finger contractures are separated by sharp, X-shaped incisions on the palmar side, between the PIP and DIP joints. The fingers are then extended and the tendons stretched. Through the stretching of the vessels the blood supply is affected, so the healing takes longer than usual and the danger of infection is increased. The use of artificial skin is controversial and is being discussed. It is often used in secondary trauma of the hands and fingers.

Postoperatively, an antiseptic cream is used to prevent infection and non-stick dressings are applied. Finally, the hand is placed in a palmar plaster longuette, with the wrist in the neutral position or in slight dorsal extension, the fingers in extension and the thumb in abduction and extension. It is important to place the wrist and fingers in the correct axis. For the first 2 weeks, the dressings are changed about every 2–5 days, depending on the severity of the operation and the healing process, using a brief general anaesthetic to prevent trauma to the child from the appalling pain and the sight of the wounds. Thereafter, dressings are changed without anaesthetic; they are often softened in a bath of Betaisodona,¹ and usually the patient removes them him- or herself in arduous, protracted, detailed work (see Fig. 8.15).

During the changing of dressings, time is used to carry out a few finger exercises. On the whole, a few wobbly movements of the individual fingers can be performed without the bandaging when the incisions are not fully healed. The wrist usually has more movement. During the healing process or once the operated area is healed, thermoplastic splints are made. They have the advantage that they can be easily altered and they are lightweight. After about 4 to 6 weeks the wounds on the hands have usually healed. During this time, the splints should be worn day and night, and only taken off when doing finger exercises. Once the healing is complete a change is made to using night resting splints. Sometimes these may be worn during the day, as the skin is so extremely hypersensitive to touch that splints can be a protection against unpleasant contact.

The operation is only meaningful if it is carried out in conjunction with the splinting; otherwise new contractures develop within a few months. For this reason, good cooperation between surgeon and therapist is essential. By using the night resting splints consistently, further development of contractures may be delayed for as long as possible. The usual period between operations is 2–3 years (see Fig. 8.16a–c).

Experience shows that the first flexion contractures of the fingers or the first abduction deficit of the thumb begins when the child is about 4 years old. At this time, children are referred to OT, to be supplied with night resting splints to delay the process of change as far and as long as possible. An exercise programme should be given additionally to support the splinting. If surgery is indicated, the occupational therapist will have the job of postoperative splinting as soon as the plaster is removed. Again exercises should complement the splinting. An explanation of splinting, postoperative splinting and the different types of splints which can be used for contracture prophylaxis are discussed in their own section (see Chaps. 8.8.3 and 4). Often children wish to learn to play a musical instrument and to participate in subjects at school which require fine motor dexterity and good coordination. To make this possible, the parents have to make the decision to have surgery to release the adhesions.

Especially during puberty adolescents have a very strong wish to have ‘normal hands’ instead of fingers which have grown into a mitten. They often have the necessary motivation to undergo an operation and to cope with all the difficulties: pain, limitations of the activities of daily living and being unable to write, etc.

Compression gloves with padding in the palm are often recommended to help prevent webbing. They also offer some protection as well as supporting the transverse arches.

Modified bandaging, as done for people with rheumatoid arthritis (cf. Bitzer, Sörensen 2010), helps to influence the webbing and the ulnar deviation of the fingers at the same time.

During the initial interview, information is noted about the development of the condition and all treatment and procedures to date. The patient should explain his or her own motivation for the OT intervention.

It is then necessary to observe any relieving postures, avoidance or evasion behaviours, malpositions and particular postures, for example during play.

An analysis of this follows, and from this the aims of the intervention can be set in discussion with the patient to meet his or her needs and to ensure a client-centred approach.

In the following section various assessment instruments are described which can be used as appropriate.